… In fact, cerebellar ataxia is the most common pediatric presentation … are the main diagnostic
criteria of AT, some adult cases … Life expectancy is lower among patients with classical form …

… with adult-onset EP features, with anterior horn cell disease … Patients with AT classically
present with ataxia before the age … If patients presented later in life (eg, in adulthood) but had …

… Here, we review the phenotypes of ataxia telangiectasia, … a mild or atypical presentation
usually have an adult onset. … When ATM kinase is absent, it has a classical presentation; …

… to combine “classical” and “variant” phenotypes into a spectrum … including adult patients10
or “variant Ataxia-telangiectasia”9 (… and presented with gait ataxia at 6 years in one and mild …

… with milder phenotype or atypical form of classical symptoms … % of variant patients
presented HIgM phenotype, as all were … from malignancies presented mostly in adulthood with …

… Citation2 There is considerable heterogeneity of disease presentation and progression in …
a more severe disease phenotype termed “classic” AT. Most children and adults with AT have …

… with a focus on clinical presentation, presence of movement … , particularly adults, chorea
and dystonia are the most … clinical phenotypes, such as the absence of mild neurological …

… as the presenting features of variant ataxia-telangiectasia.… mild clinical phenotype but
absent ATM protein.Insulin resistance is reported in adult patients with classic ataxia-telangiectasia.…

… , whereas older patients (adolescents and young adults) may develop other motor …
phenotype may be milder, presenting later in school age children, adolescents, and young adults…

… general ataxia and may be misdiagnosed in adults with … Here, we report a patient with
classical AT phenotype, hyper … Ataxia-telangiectasia in a patient presenting with hyper-…